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Aliases for PELP1 Gene

Aliases for PELP1 Gene

  • Proline, Glutamate And Leucine Rich Protein 1 2 3 5
  • Modulator Of Non-Genomic Activity Of Estrogen Receptor 3 4
  • Transcription Factor HMX3 3 4
  • MNAR 3 4
  • Proline-, Glutamic Acid- And Leucine-Rich Protein 1 3
  • Proline, Glutamic Acid And Leucine Rich Protein 1 2
  • Proline And Glutamic Acid Rich Nuclear Protein 3
  • P160 3
  • HMX3 4

External Ids for PELP1 Gene

Previous GeneCards Identifiers for PELP1 Gene

  • GC17M005003
  • GC17M004920
  • GC17M004525
  • GC17M004781
  • GC17M004521
  • GC17M004574

Summaries for PELP1 Gene

Entrez Gene Summary for PELP1 Gene

  • This gene encodes a transcription factor which coactivates transcription of estrogen receptor responsive genes and corepresses genes activated by other hormone receptors or sequence-specific transcription factors. Expression of this gene is regulated by both members of the estrogen receptor family. This gene may be involved in the progression of several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

GeneCards Summary for PELP1 Gene

PELP1 (Proline, Glutamate And Leucine Rich Protein 1) is a Protein Coding gene. Diseases associated with PELP1 include Breast Cancer. Among its related pathways are Gene Expression and Plasma membrane estrogen receptor signaling. Gene Ontology (GO) annotations related to this gene include binding.

UniProtKB/Swiss-Prot for PELP1 Gene

  • Coactivator of estrogen receptor-mediated transcription and a corepressor of other nuclear hormone receptors and sequence-specific transcription factors. Plays a role in estrogen receptor (ER) genomic activity when present in the nuclear compartment by activating the ER target genes in a hormonal stimulation dependent manner. Can facilitate ER non-genomic signaling via SRC and PI3K interaction in the cytosol. Plays a role in E2-mediated cell cycle progression by interacting with RB1. May have important functional implications in ER/growth factor cross-talk. Interacts with several growth factor signaling components including EGFR and HRS. Involved in nuclear receptor signaling via its interaction with AR and NR3C1. May promote tumorigenesis via its interaction with and modulation of several oncogenes including SRC, PI3K, STAT3 and EGFR. Plays a role in cancer cell metastasis via its ability to modulate E2-mediated cytoskeleton changes and cell migration via its interaction with SRC and PI3K. Functions as the key stabilizing component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes. Component of the PELP1 complex involved in the nucleolar steps of 28S rRNA maturation and the subsequent nucleoplasmic transit of the pre-60S ribosomal subunit. Regulates pre-60S association of the critical remodeling factor MDN1 (PubMed:21326211).

Additional gene information for PELP1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PELP1 Gene

Genomics for PELP1 Gene

GeneHancer (GH) Regulatory Elements for PELP1 Gene

Promoters and enhancers for PELP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I004703 Promoter/Enhancer 1.5 Ensembl ENCODE 550.8 +0.3 312 2 HDGF PKNOX1 CLOCK MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 PELP1 RPS12P29 GC17M004711 LOC101559451 ARRB2 DERL2 GC17M004678
GH17I004706 Enhancer 0.4 ENCODE 550.8 -2.0 -1987 0.6 ZNF449 GLI4 PELP1 RPS12P29 GC17M004711 ARRB2
GH17I003885 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 45.1 +813.8 813801 10.9 HDGF PKNOX1 CLOCK ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B ZNF213 CAMKK1 ANKFY1 MYBBP1A PELP1 ENSG00000235085 LOC105371492 ZZEF1 P2RX1 SHPK NCBP3
GH17I004133 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 22.9 +564.8 564795 12.4 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CYB5D2 ZZEF1 ZNF232 PELP1 MYBBP1A LOC101927979 ANKFY1 INCA1 LOC105371492 PIR51897
GH17I005191 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 19.2 -487.6 -487564 1.8 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 POLR2B ZNF213 ZNF594 LOC100130950 LOC101927979 RPAIN ZNF232 ANKFY1 MIS12 PELP1 RABEP1 DERL2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PELP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PELP1 gene promoter:

Genomic Locations for PELP1 Gene

Genomic Locations for PELP1 Gene
chr17:4,669,774-4,704,337
(GRCh38/hg38)
Size:
34,564 bases
Orientation:
Minus strand
chr17:4,574,679-4,607,632
(GRCh37/hg19)

Genomic View for PELP1 Gene

Genes around PELP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PELP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PELP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PELP1 Gene

Proteins for PELP1 Gene

  • Protein details for PELP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZL8-PELP1_HUMAN
    Recommended name:
    Proline-, glutamic acid- and leucine-rich protein 1
    Protein Accession:
    Q8IZL8
    Secondary Accessions:
    • O15450
    • Q5EGN3
    • Q6NTE6
    • Q96FT1
    • Q9BU60

    Protein attributes for PELP1 Gene

    Size:
    1130 amino acids
    Molecular mass:
    119700 Da
    Quaternary structure:
    • Interacts with HRS, RXRA, SUMO2, HDAC2, RB1 and STAT3. Interacts with PI3K, SRC and EGFR in cytoplasm. Interacts with ESR1 and ESR2 and this interaction is enhanced by 17-beta-estradiol. Interacts with CREBBP, EP300, AR and NR3C1 in a ligand-dependent manner. Forms two complexes in the presence of 17-beta-estradiol; one with SRC and ESR1 and another with LCK and ESR1. Interacts with histone H1 and H3 with a greater affinity for H1. Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Core component of the 5FMC complex, at least composed of PELP1, LAS1L, TEX10, WDR18 and SENP3; the complex interacts with methylated CHTOP and ZNF148. Interacts with NOL9. Interacts with BCAS3. Component of the PELP1 complex, composed of at least PELP1, TEX10 and WDR18. The complex interacts (via PELP1) with MDN1 (via its hexameric AAA ATPase ring) and the pre-60S ribosome particles (PubMed:21326211, PubMed:27814492).
    SequenceCaution:
    • Sequence=AAC17708.2; Type=Frameshift; Positions=656, 672; Evidence={ECO:0000305}; Sequence=AAC17708.2; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

neXtProt entry for PELP1 Gene

Post-translational modifications for PELP1 Gene

  • Transiently sumoylated, preferentially conjugated to SUMO2 or SUMO3. Sumoylation causes nucleolar exclusion of PELP1 and promotes the recruitment of MDN1 to pre-60S particles. Desumoylation by SUMO isopeptidase SENP3 is needed to release both PELP1 and MDN1 from pre-ribosomes.
  • Ubiquitination at Lys512

No data available for DME Specific Peptides for PELP1 Gene

Domains & Families for PELP1 Gene

Gene Families for PELP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PELP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IZL8

UniProtKB/Swiss-Prot:

PELP1_HUMAN :
  • The Glu-rich region mediates histones interaction.
  • Belongs to the RIX1/PELP1 family.
Domain:
  • The Glu-rich region mediates histones interaction.
  • The Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs are required for the association with nuclear receptor ESR1.
Family:
  • Belongs to the RIX1/PELP1 family.
genes like me logo Genes that share domains with PELP1: view

Function for PELP1 Gene

Molecular function for PELP1 Gene

UniProtKB/Swiss-Prot Function:
Coactivator of estrogen receptor-mediated transcription and a corepressor of other nuclear hormone receptors and sequence-specific transcription factors. Plays a role in estrogen receptor (ER) genomic activity when present in the nuclear compartment by activating the ER target genes in a hormonal stimulation dependent manner. Can facilitate ER non-genomic signaling via SRC and PI3K interaction in the cytosol. Plays a role in E2-mediated cell cycle progression by interacting with RB1. May have important functional implications in ER/growth factor cross-talk. Interacts with several growth factor signaling components including EGFR and HRS. Involved in nuclear receptor signaling via its interaction with AR and NR3C1. May promote tumorigenesis via its interaction with and modulation of several oncogenes including SRC, PI3K, STAT3 and EGFR. Plays a role in cancer cell metastasis via its ability to modulate E2-mediated cytoskeleton changes and cell migration via its interaction with SRC and PI3K. Functions as the key stabilizing component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes. Component of the PELP1 complex involved in the nucleolar steps of 28S rRNA maturation and the subsequent nucleoplasmic transit of the pre-60S ribosomal subunit. Regulates pre-60S association of the critical remodeling factor MDN1 (PubMed:21326211).

Gene Ontology (GO) - Molecular Function for PELP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IDA 17505058
GO:0003723 RNA binding HDA,IDA 22658674
GO:0005515 protein binding IPI 16169070
GO:0008134 transcription factor binding IPI 17505058
genes like me logo Genes that share ontologies with PELP1: view
genes like me logo Genes that share phenotypes with PELP1: view

miRNA for PELP1 Gene

miRTarBase miRNAs that target PELP1

Clone Products

  • Addgene plasmids for PELP1

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PELP1 Gene

Localization for PELP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PELP1 Gene

Nucleus, nucleolus. Nucleus, nucleoplasm. Nucleus. Cytoplasm. Note=Mainly found in the nucleoplasm, with low levels detected in the cytoplasm (By similarity). Also found associated with the plasma membrane. Mainly in cytoplasm in a subset of breast tumors. Localization is widely deregulated in endometrial cancers with predominantly cytoplasm localization in high-grade endometrial tumors (PubMed:16140940). {ECO:0000250 UniProtKB:Q9DBD5, ECO:0000269 PubMed:16140940}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PELP1 gene
Compartment Confidence
nucleus 5
plasma membrane 3
extracellular 1
mitochondrion 1
peroxisome 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (4)
  • Nucleus (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PELP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0035327 transcriptionally active chromatin IDA 17505058
genes like me logo Genes that share ontologies with PELP1: view

Pathways & Interactions for PELP1 Gene

genes like me logo Genes that share pathways with PELP1: view

SIGNOR curated interactions for PELP1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PELP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006364 rRNA processing TAS --
GO:0045944 positive regulation of transcription by RNA polymerase II IDA 17505058
GO:0071391 cellular response to estrogen stimulus IEA,IDA 17505058
genes like me logo Genes that share ontologies with PELP1: view

Drugs & Compounds for PELP1 Gene

(10) Drugs for PELP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for PELP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PELP1: view

Transcripts for PELP1 Gene

Unigene Clusters for PELP1 Gene

Proline, glutamate and leucine rich protein 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for PELP1

Alternative Splicing Database (ASD) splice patterns (SP) for PELP1 Gene

No ASD Table

Relevant External Links for PELP1 Gene

GeneLoc Exon Structure for
PELP1
ECgene alternative splicing isoforms for
PELP1

Expression for PELP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PELP1 Gene

Protein differential expression in normal tissues from HIPED for PELP1 Gene

This gene is overexpressed in Fetal ovary (7.4), Liver (7.0), and Fetal Brain (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PELP1 Gene



Protein tissue co-expression partners for PELP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PELP1 Gene:

PELP1

SOURCE GeneReport for Unigene cluster for PELP1 Gene:

Hs.744899

mRNA Expression by UniProt/SwissProt for PELP1 Gene:

Q8IZL8-PELP1_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for PELP1 Gene

  • Nervous system(4.9)
  • Liver(4.2)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with PELP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PELP1 Gene

Orthologs for PELP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PELP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PELP1 34
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PELP1 33 34
  • 86.69 (n)
cow
(Bos Taurus)
Mammalia PELP1 34 33
  • 86.67 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pelp1 33
  • 85.2 (n)
mouse
(Mus musculus)
Mammalia Pelp1 33 16 34
  • 84.84 (n)
oppossum
(Monodelphis domestica)
Mammalia PELP1 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PELP1 34
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PELP1 34
  • 46 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.20939 33
zebrafish
(Danio rerio)
Actinopterygii PELP1 34
  • 41 (a)
OneToOne
-- 33
Species where no ortholog for PELP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PELP1 Gene

ENSEMBL:
Gene Tree for PELP1 (if available)
TreeFam:
Gene Tree for PELP1 (if available)

Paralogs for PELP1 Gene

No data available for Paralogs for PELP1 Gene

Variants for PELP1 Gene

Sequence variations from dbSNP and Humsavar for PELP1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000046313 -- 4,681,749(-) A/G intron_variant
rs1000071255 -- 4,704,230(-) T/G 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1000212302 -- 4,686,767(-) C/G intron_variant
rs1000308024 -- 4,701,812(-) G/T intron_variant
rs1000450982 -- 4,676,228(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PELP1 Gene

Variant ID Type Subtype PubMed ID
esv3639793 CNV loss 21293372
nsv574273 CNV gain 21841781
nsv833346 CNV loss 17160897
nsv978353 CNV duplication 23825009

Variation tolerance for PELP1 Gene

Residual Variation Intolerance Score: 43.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.53; 71.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PELP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PELP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PELP1 Gene

Disorders for PELP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PELP1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
breast cancer
  • breast cancer, familial
- elite association - COSMIC cancer census association via MalaCards
Search PELP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PELP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PELP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PELP1 Gene

Publications for PELP1 Gene

  1. Functional interactions between the estrogen receptor coactivator PELP1/MNAR and retinoblastoma protein. (PMID: 12682072) Balasenthil S … Vadlamudi RK (The Journal of biological chemistry 2003) 2 3 4 22 58
  2. Molecular cloning and characterization of PELP1, a novel human coregulator of estrogen receptor alpha. (PMID: 11481323) Vadlamudi RK … Kumar R (The Journal of biological chemistry 2001) 2 3 4 22 58
  3. Estrogen induces expression of BCAS3, a novel estrogen receptor-alpha coactivator, through proline-, glutamic acid-, and leucine-rich protein-1 (PELP1). (PMID: 17505058) Gururaj AE … Kumar R (Molecular endocrinology (Baltimore, Md.) 2007) 3 4 22 58
  4. 9-cis-retinoic acid up-regulates expression of transcriptional coregulator PELP1, a novel coactivator of the retinoid X receptor alpha pathway. (PMID: 16574651) Singh RR … Kumar R (The Journal of biological chemistry 2006) 3 4 22 58
  5. Functional implications of altered subcellular localization of PELP1 in breast cancer cells. (PMID: 16140940) Vadlamudi RK … Kumar R (Cancer research 2005) 3 4 22 58

Products for PELP1 Gene

  • Addgene plasmids for PELP1

Sources for PELP1 Gene

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